ClinVar Miner

List of variants in gene combination AVEN, RYR3 reported as benign by Invitae

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001036.6(RYR3):c.*839A>G rs1044129 0.61246
NM_001036.6(RYR3):c.14300-19T>A rs2303310 0.56882
NM_001036.6(RYR3):c.14268C>T (p.Phe4756=) rs79305633 0.03358
NM_001036.6(RYR3):c.14118T>C (p.Asp4706=) rs113189230 0.01367
NM_001036.6(RYR3):c.14110G>A (p.Glu4704Lys) rs182257230 0.00733
NM_001036.6(RYR3):c.13938A>G (p.Leu4646=) rs199645058 0.00086
NM_001036.6(RYR3):c.14370A>G (p.Lys4790=) rs199553688 0.00009
NM_001036.6(RYR3):c.14142+27_14142+46del rs139758855
NM_001036.6(RYR3):c.14364+14A>G

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